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Title: Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Authors: Chan, Sock Hoai 
Bylstra, Yasmin
Teo, Jing Xian 
Kuan, Jyn Ling 
Bertin, Nicolas
Gonzalez-Porta, Mar
Hebrard, Maxime
Tirado-Magallanes, Roberto
Tan, Joanna Hui Juan
Jeyakani, Justin
Li, Zhihui
Chai, Jin Fang 
Chong, Yap Seng 
Davila, Sonia
Goh, Liuh Ling
Lee, Eng Sing
Wong, Eleanor
Wong, Tien Yin 
SG10K_Health Consortium
Prabhakar, Shyam
Liu, Jianjun 
Cheng, Ching-Yu 
Eisenhaber, Birgit
Karnani, Neerja 
Leong, Khai Pang
Sim, Xueling 
Yeo, Khung Keong 
Chambers, John C
Tai, E-Shyong
Tan, Patrick 
Jamuar, Saumya S
Ngeow, Joanne
Lim, Weng Khong 
Keywords: SG10K_Health Consortium
Issue Date: 5-Nov-2022
Publisher: Springer Science and Business Media LLC
Citation: Chan, Sock Hoai, Bylstra, Yasmin, Teo, Jing Xian, Kuan, Jyn Ling, Bertin, Nicolas, Gonzalez-Porta, Mar, Hebrard, Maxime, Tirado-Magallanes, Roberto, Tan, Joanna Hui Juan, Jeyakani, Justin, Li, Zhihui, Chai, Jin Fang, Chong, Yap Seng, Davila, Sonia, Goh, Liuh Ling, Lee, Eng Sing, Wong, Eleanor, Wong, Tien Yin, SG10K_Health Consortium, Prabhakar, Shyam, Liu, Jianjun, Cheng, Ching-Yu, Eisenhaber, Birgit, Karnani, Neerja, Leong, Khai Pang, Sim, Xueling, Yeo, Khung Keong, Chambers, John C, Tai, E-Shyong, Tan, Patrick, Jamuar, Saumya S, Ngeow, Joanne, Lim, Weng Khong (2022-11-05). Analysis of clinically relevant variants from ancestrally diverse Asian genomes.. Nat Commun 13 (1) : 6694-. ScholarBank@NUS Repository.
Abstract: Asian populations are under-represented in human genomics research. Here, we characterize clinically significant genetic variation in 9051 genomes representing East Asian, South Asian, and severely under-represented Austronesian-speaking Southeast Asian ancestries. We observe disparate genetic risk burden attributable to ancestry-specific recurrent variants and identify individuals with variants specific to ancestries discordant to their self-reported ethnicity, mostly due to cryptic admixture. About 27% of severe recessive disorder genes with appreciable carrier frequencies in Asians are missed by carrier screening panels, and we estimate 0.5% Asian couples at-risk of having an affected child. Prevalence of medically-actionable variant carriers is 3.4% and a further 1.6% harbour variants with potential for pathogenic classification upon additional clinical/experimental evidence. We profile 23 pharmacogenes with high-confidence gene-drug associations and find 22.4% of Asians at-risk of Centers for Disease Control and Prevention Tier 1 genetic conditions concurrently harbour pharmacogenetic variants with actionable phenotypes, highlighting the benefits of pre-emptive pharmacogenomics. Our findings illuminate the diversity in genetic disease epidemiology and opportunities for precision medicine for a large, diverse Asian population.
Source Title: Nat Commun
ISSN: 20411723
DOI: 10.1038/s41467-022-34116-9
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